ライフサイエンスコーパス: UPD

1 UPD critically involves P450 protein ubiquitination by E

2 UPD currently contains information on 44 individual prot

3 UPD involving chromosomes frequently affected by deletio

4 UPD is thought to result mostly from pre- or post-zygoti

5 UPD was also identified in an XX/XY chimeric individual,

6 ching a coulomb limiting coverage close to 1 UPD monolayer of H(ads).

7 At diagnosis, 15 aberrations (CNAs, n = 10; UPDs, n = 5) were identified in 13 patients (25%), where

8 lapse, 56 genomic alterations (CNAs, n = 46; UPDs, n = 10) were detected in 29 patients (55%) indicat

9 aternal uniparental disomy for chromosome 7 [UPD(7)mat] explain 20-60% and 10% of the syndrome, respe

10 ts were identified in the 86 genomes; 6 of 8 UPD calls occurred in samples with a normal karyotype.

11 t curing by coexpression of low amounts of a UPD-green fluorescent protein fusion protein.

12 This is the first time a UPD has been described in a patient with schizophrenia,

13 P3A suicidal inactivation (which accelerates UPD), and/or proteasomal inhibition, and were confirmed

14 ecifically, chloride ions adsorb onto the Ag UPD adlayer and effect changes in the electrochemical de

15 exhibit a primary stripping peak for the Ag UPD adlayer at 550 mV vs Ag(+/0), and chloride adsorptio

16 clic voltammograms (CVs) of the native Au/Ag(UPD) electrode in 0.1 M H(2)SO(4)(aq) exhibit a primary

17 +/0), and chloride adsorption onto the Au/Ag(UPD) surface effects a peak shift to approximately 600 m

18 Del(9)(p21) (~70%) and UPD(9)p21)/CDKN2A/B (~28%) were the most frequent genomi

19 alterations and insights into aneuploidy and UPD mechanisms.

20 totic and meiotic origins for aneuploidy and UPD supports existence of selective factors against full

21 nce for the meiotic origin of aneuploidy and UPD was seen in the patterns of recombination visible du

22 assic 2-threshold approach, in which BPD and UPD occupy the same continuum of liability but differ in

23 nalyzed a cohort of 52 children with BWS and UPD using a panel of microsatellite markers for chromoso

24 ine phosphoribosyltransferase deficiency and UPD.

25 hat its autophagic lysosomal degradation and UPD pathways are evolutionarily conserved, even though i

26 ich aberrant methylation of H19 and LIT1 and UPD are strongly associated with cancer risk and specifi

27 od, both the electroreduction of nitrate and UPD of lead monolayer on copper single (111) and polycry

28 LEU1, and lower incidence of del(9)(p21) and UPD(9p21)/CDKN2A/B.

29 nt; (ii) co-occurrence of mosaic trisomy and UPD and (iii) potential recurrence risks.

30 Because UPD leads to reduction to homozygosity at multiple reces

31 a nominally significant association between UPD of chromosome 22 and autism risk, we do not find sig

32 do not find significant associations between UPD and deleterious traits in the 23andMe database.

33 A reduced hepatic bilirubin UPD- glucuronosyltransferase (UGT) is associated with th

34 red cells transfected with the mom gene bind UPD and activate the HOP/STAT92E signal transduction pat

35 n for alterations in other genes affected by UPD should also be considered in such cases.

36 presenting a reported case of SCID caused by UPD and suggest UPD should be considered in SCID and oth

37 -c in patients with or without corresponding UPD or deletions and correlated mutational status with c

38 red to the Pt(111) facets, and therefore, Cu UPD occurs on the 4-fold hollow sites of Pt(100) first.

39 a relevant E3 in CYP3A4, CYP3A23, and CYP2E1 UPD.

40 conjugating E2 enzymes as relevant to CYP2E1 UPD.

41 n addition to the internally generated data, UPD provides links to the National Center for Biotechnol

42 ama at Birmingham (UAB) Proteomics Database (UPD) was created to provide a repository for the storage

43 itin (Ub)-dependent proteasomal degradation (UPD) as a major pathway.

44 ubiquitin-dependent proteasomal degradation (UPD) in an endoplasmic reticulum (ER)-associated degrada

45 itin (Ub)-dependent proteasomal degradation (UPD) in an ER-associated degradation (ERAD) process.

46 ubiquitin-dependent proteasomal degradation (UPD).

47 not involve 11q, but 4 patients demonstrated UPD for the whole of chromosome 11.

48 aneously formed under-potentially deposited (UPD) Pb and surface lead hydroxide change the functional

49 d by adsorption of underpotential-deposited (UPD) hydrogen.

50 hloride using an underpotentially deposited (UPD) Ag adlayer on polycrystalline Au substrates as a se

51 that a complete underpotentially deposited (UPD) lead layer inhibits the electroreduction of nitrate

52 determined by Pb underpotential deposition (UPD) and the amount of Au obtained by anodic stripping o

53 ep, namely the Cu underpotential deposition (UPD) followed by galvanic replacement with Pt.

54 e electrochemical underpotential deposition (UPD) of hydrogen on Pt.

55 voltammetry of Cu underpotential deposition (UPD) onto Pt dendrimer-encapsulated nanoparticles (DENs)

56 Here, based on underpotential deposition (UPD), we propose an "escort effect" of electrolyte addit

57 formed on Ge, via underpotential deposition (UPD).

58 tiological overlap with unipolar depression (UPD).

59 esent a machine-learning framework to detect UPD using ROH.

60 C57BL/6 mice receiving unpurified diet (UPD), PN-equivalent diet (PN) + saline, and PN + soybean

61 uency of trisomics and uniparental disomics (UPDs) among all litters.

62 alterations (CNAs) and uniparental disomies (UPDs) and performed comprehensive gene mutation screenin

63 rnal deletions, uniparental paternal disomy (UPD).

64 ndividuals with uniparental paternal disomy (UPD); of those with UBE3A pathogenic variants, individua

65 itance patterns, such as uniparental disomy (UPD) and chimerism.

66 detect acquired somatic uniparental disomy (UPD) and other cryptic defects, even in samples deemed n

67 omic regions of acquired uniparental disomy (UPD) are common in malignancy and frequently harbor muta

68 Mosaic aneuploidy and uniparental disomy (UPD) arise from mitotic or meiotic events.

69 ber of reported cases of uniparental disomy (UPD) associated with an acrocentric rearrangement, carri

70 acquisition of segmental uniparental disomy (UPD) by mitotic recombination has been reported in 15% t

71 GRs can lead to regional uniparental disomy (UPD) due to template switches between homologs versus si

72 t of 57 individuals with uniparental disomy (UPD) for 19 different chromosomes, defining imprinted DM

73 Mice with uniparental disomy (UPD) for Chr.

74 somal regions of somatic uniparental disomy (UPD) in cancer genomes.

75 no published reports of uniparental disomy (UPD) in HS-RDEB; moreover, this case represents only the

76 Uniparental disomy (UPD) is a rare condition in which a diploid offspring ca

77 Acquired somatic uniparental disomy (UPD) is commonly observed in myelodysplastic syndromes (

78 through the compensatory uniparental disomy (UPD) mechanism.

79 Additionally, paternal uniparental disomy (UPD) of 11p15 was associated with hemihypertrophy (P=.00

80 ly 20% of BWS cases have uniparental disomy (UPD) of chromosome 11.

81 s are caused by paternal uniparental disomy (UPD) of chromosome 15 and 2-3% are caused by "imprinting

82 iated with both paternal uniparental disomy (UPD) of chromosome 6 and paternal duplications of the cr

83 alysis revealed maternal uniparental disomy (UPD) of chromosome 6.

84 atients exhibit paternal uniparental disomy (UPD) of chromosome 6q24, where at least two imprinted ge

85 ntified a proband with a uniparental disomy (UPD) of the entire chromosome 1.

86 ther because of maternal uniparental disomy (UPD) of this region or, rarely, from a methylation impri

87 Uniparental disomy (UPD) refers to the presence of two copies of a chromosom

88 kle cell trait to SCD by uniparental disomy (UPD) resulting in mosaicism for SS and AS erythrocytes.

89 A total of 8 uniparental disomy (UPD) segments were identified in the 86 genomes; 6 of 8

90 Uniparental disomy (UPD) was a frequent event, especially affecting chromoso

91 Moreover, segmental uniparental disomy (UPD) was found in 20% of MDS, 23% of sAML, and 35% of MD

92 at disease was caused by uniparental disomy (UPD) with isodisomy of the entire maternal Chr1 bearing

93 ions, such as regions of uniparental disomy (UPD), have been shown to harbor homozygous mutations and

94 Aneuploidy, notably uniparental disomy (UPD), homologous recombination deficiency (HRD), epithel

95 some 15q11-q13, paternal uniparental disomy (UPD), imprinting defects or loss-of-function mutations i

96 served in tumor cells is uniparental disomy (UPD), in which a pair of homologous chromosomes are deri

97 Uniparental disomy (UPD), in which an individual contains a pair of homologo

98 f AS cases, no deletion, uniparental disomy (UPD), or methylation abnormality is detectable, and thes

99 eduplication, leading to uniparental disomy (UPD), represented more than half of the loss of heterozy

100 ploidy but may result in uniparental disomy (UPD), the inheritance of both homologs of a chromosome f

101 letions and copy-neutral uniparental disomy (UPD).

102 erns were due to partial uniparental disomy (UPD).

103 an Parkin spanning the Unique Parkin domain (UPD, also annotated as RING0) and RBR domains, revealing

104 ession of the N-terminal Ure2p prion domain (UPD) or full-length Ure2p.

105 e TYMV TLS is an upstream pseudoknot domain (UPD) that has been considered to be structurally distinc

106 Recently, ultrafast power Doppler (UPD) showed potential to study CAR in neonates based on

107 However, the factors that drive UPD remain unknown.

108 Ectopic expression of either UPD or JAK is sufficient to induce extra epithelial cell

109 ndeed physiologically involved in CYP3A ERAD/UPD in cultured rat hepatocytes.

110 ation differences between meioses exhibiting UPD and normal meioses.

111 However, an accurate risk estimate for UPD associated with these rearrangements is lacking.

112 ions of the existing statistical methods for UPD data.

113 Given the relatively high risk for UPD in prenatally identified Robertsonian translocations

114 disomic cells, confirming increased risk for UPD in the case of meiotic non-disjunction.

115 ent, carriers are presumed to be at risk for UPD.

116 nd sequence uracil-containing DNA fragments (UPD-Seq).

117 arose meiotically, and three of the five had UPD in the disomic cells, confirming increased risk for

118 109 dizygotic pairs in which the proband had UPD.

119 cluding copy-neutral loss of heterozygosity (UPD, 7%).

120 omes, were studied prospectively to identify UPD for the chromosomes involved in the rearrangements.

121 ns and mitral cells of the olfactory bulb in UPD mice was markedly reduced compared to non-UPD litter

122 was only moderately or not at all reduced in UPD mice.

123 nflammatory markers similar to those seen in UPD-fed controls.

124 (UI) as the frequency of occurrence of TT in UPD-Seq reads at different original TC dinucleotides.

125 define small genetic abnormalities including UPD, which is usually overlooked by standard methods.

126 esolution for chromosomal defects, including UPD.

127 In most cases (92% of those informative) UPD did not involve 11q, but 4 patients demonstrated UPD

128 accharomyces pombe as a model to investigate UPD, and show that defects in the RNA interference (RNAi

129 ertsonian translocations and isochromosomes, UPD testing should be considered, especially for cases i

130 interstitial paternal uniparental isodisomy (UPD) for chromosome 11p15.1.

131 sity as the result of uniparental isodisomy (UPD) in a patient with KS and a de novo, dominant mutati

132 ic segmental paternal uniparental isodisomy (UPD) of 11pter-11p14 in the proband that encompassed the

133 one patient, paternal uniparental isodisomy (UPD) of chromosome 1 resulted in homozygosity for a prob

134 d delivery to the 26 S proteasome during its UPD/ERAD.

135 odifications or "degrons") contribute to its UPD.

136 Maternal UPD of chromosome 6 unmasked a mutation in the TULP1 gen

137 with one cell line having complete maternal UPD consistent with a parthenogenetic origin.

138 y, in cells lacking RNAi components or Mmi1, UPD is associated with the untimely expression of gameto

139 Further studies revealed mosaic UPD of the beta-globin locus, more SS erythroid progenit

140 tological diffuse forms of CHI due to mosaic UPD in patients with dominantly inherited ABCC8 (or KCNJ

141 tients with chromosome aneuploidy mosaicism, UPD and one individual with XX/XY chimerism to gain insi

142 for novel UBE3A mutations in nondeletion/non-UPD/non-imprinting mutation (NDUI) AS patients and have

143 PD mice was markedly reduced compared to non-UPD littermates.

144 h regulating the intrabacterial abundance of UPD-GlcNAc, the sugar-nucleotide donor used by this effe

145 We now report the first two cases of UPD resulting in retinal degeneration.

146 or the systematic and sensitive detection of UPD in hematologic malignancies and other cancers.

147 metaphase cytogenetics, whereas detection of UPD is accomplished by microsatellite and copy number an

148 is case represents only the third example of UPD of chromosome 3 to be reported.

149 f gametogenic genes as a causative factor of UPD, and provide a solid foundation for understanding th

150 We searched for instances of UPD across 4,400,363 consented research participants fro

151 gosity (ROH), we identified 675 instances of UPD across both databases.

152 elimination factor Mmi1 cause high levels of UPD in vegetative diploid cells.

153 Overexpression of UPD induced type B [URE3] but not type A.

154 t compared with the population prevalence of UPD (1 in 3500), suggesting that most of these events ar

155 Thus, the prevalence of UPD and its phenotypic consequences in the general popul

156 ariants, mainly in the isodisomic regions of UPD chromosomes, which, among other variants, provide ta

157 dy was to provide an estimate of the risk of UPD associated with nonhomologous Robertsonian transloca

158 IGF2 and H19 were included in the segment of UPD in all cases.

159 Current understanding of UPD is limited to ~3,300 case subjects for which UPD was

160 deamination, and demonstrate the utility of UPD-Seq.

161 In genetic studies of UPDs, many genetic markers are usually used to identify

162 ble approach to create genetic maps based on UPD data and to inspect recombination differences betwee

163 Of 86 genomes, 43 (50%) had no CNA or UPD at this level of resolution.

164 ctable, and these cases, unlike deletions or UPD, can be familial.

165 ly cryptic chromosomal changes, particularly UPD, in a cohort of 301 patients with myelodysplastic sy

166 patients with TNDM, in whom neither paternal UPD of chromosome 6 nor duplication of 6q24 have been fo

167 Using mice with partial paternal UPD encompassing Ube3a to differentiate maternal and pat

168 resulting from telomeric segmental paternal UPD of chromosome 11, which unmasks a recessively acting

169 A methylation between patients with paternal UPD of chromosome 6 and normal controls.

170 identical to that of patients with paternal UPD of chromosome 6.

171 tion of the mechanisms involved in producing UPD unique to Robertsonian translocations.

172 meric localization of Rec8 and Psc3 promotes UPD by uniquely affecting chromosome segregation, causin

173 LD) and ubiquitin-dependent 26S proteasomal (UPD) degradation pathways.

174 th no evidence of clustering of the proximal UPD breakpoint.

175 sion produces daughter cells with reciprocal UPD for the same pair of chromosomes without an aneuploi

176 oderm- and ectoderm-derived tissues retained UPD of the entire maternal Chr1 in this patient, who had

177 achieves high turnover frequencies of 4.2 s(UPD)(-1) (3.0 s(BET)(-1)) at 1.50 V vs. reversible hydro

178 the CEBPA gene coincided with a large-scale UPD on chromosome 19.

179 L samples had evidence of acquired segmental UPD of 13q in a subclone of the relapsed leukemia.

180 One patient acquired segmental UPD of 19q that led to homozygosity for a CEBPA mutation

181 a single patient with AML acquired segmental UPD of chromosome 4q, for which the candidate gene is un

182 and mitotic formation of a mosaic segmental UPD.

183 We conclude that acquisition of segmental UPD and the resulting homozygous mutation is a common ev

184 that mapping minimally overlapping segmental UPD regions can help target the search for both known an

185 Newly acquired segmental UPDs were observed at relapse in 11 AML samples (40%).

186 Six were segmental UPDs of chromosome 13q, which were shown to lead to a ch

187 55 patients and uniparental disomy segments (UPD) in four (0.35%) of 1,155 patients.

188 c DNA using uracil pull-down and sequencing, UPD-seq.

189 ertsonian translocations studied, one showed UPD for chromosome 13, providing a risk estimate of 0.6%

190 homologous acrocentric rearrangements showed UPD, providing a risk estimate of 66%.

191 row was available from five patients showing UPD in their leukemias, and in all cases the homozygosit

192 Somatic UPD events are usually explained as reflecting two conse

193 ith SNP-A lesions including acquired somatic UPD exhibited worse overall survival (OS) and event-free

194 Acquired somatic UPD, not detectable by MC, was common in our AML cohort

195 rrations (copy number gain, LOH, and somatic UPDs) during carcinogenesis may be dependent on the germ

196 orted case of SCID caused by UPD and suggest UPD should be considered in SCID and other recessive dis

197 c cohesin Rec8 or the cyclin Crs1 suppresses UPD in both RNAi and mmi1 mutants.

198 We estimate that UPD is twice as common as previously thought, and we pre

199 Together, our results indicate that UPD for 9p plays a causal role in the PV phenotype in pa

200 We show that UPD is a common chromosomal defect in myeloid malignanci

201 The UPD adopts a novel elongated Zn-binding fold, while RING

202 putative phospho-peptide docking site in the UPD, and explains many PD-causing mutations.

203 The mechanisms of formation of the UPD included trisomy rescue, with and without concomitan

204 r substrate for aminoacylation, and thus the UPD and TLS are functionally and structurally coupled.

205 Ni deposits preferentially and triggers the UPD of Zn on Ni.

206 RING2 forms a hydrophobic interface with the UPD, burying the catalytic Cys431, which is part of a co

207 cause imprinting of Zac1 is relaxed in these UPD mice.

208 The TYMV TLS.UPD might demonstrate how RNA structural plasticity can

209 ination events underlying meioses leading to UPD.

210 postzygotic mitotic recombination leading to UPD.

211 fy the stage of nondisjunction that leads to UPD and to uncover the associated unusual patterns of re

212 rexpression of Rec8 is sufficient to trigger UPD in wild-type cells.

213 s clearly reveal that native CYPs 3A undergo UPD and implicate a role for p97 in this process.

214 The ligand for this pathway, Unpaired (UPD), is expressed by two central cells within the migra

215 This study aims to use UPD combined with an algorithm for the discrimination of

216 in Saccharomyces cerevisiae are degraded via UPD, the turnover of native hepatic CYPs 3A in their phy

217 g that native CYPs 3A were also degraded via UPD.

218 is limited to ~3,300 case subjects for which UPD was associated with clinical presentation due to imp

219 acrocentric chromosomes 14 and 15, in which UPD is associated with adverse clinical outcomes.

220 kers after endotoxin challenge compared with UPD-fed controls, whereas 50:50 FO:MCT, 30:70 FO:MCT, FO

221 iltration, but was inversely correlated with UPD, HRD and tumour infiltration by CD68(+) monocytes.

222 One patient with UPD outside of q24 (UPD4q28.3) displayed additional TET2

223 or suppressor gene TET2 in MDS patients with UPD on chromosome 4.

224 We report two cases of PWS with UPD in which there was a meiosis I nondisjunction error